• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genetic testing and molecular biomarkers >Evaluation of the SMN and NAIP Genes in a Family:Homozygous Deletion of the SMN2 Gene in the Fetus and Outcome of the Pregnancy
【24h】

Evaluation of the SMN and NAIP Genes in a Family:Homozygous Deletion of the SMN2 Gene in the Fetus and Outcome of the Pregnancy

机译：评估SMN和简要的基因家庭:SMN2基因的纯合缺失胎儿和怀孕的结果

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

SPINAL MUSCULAR ATROPHY (SMA) is characterized by the death of motor neurons that leads to diffuse proximal and distal weakness, hypotonia, and muscular atrophy. Survival motor neuron (SMN), neuronal apoptosis inhibitory protein (NAIP), and GTF2H2 genes were shown to be associated with SMA. SMN protein is encoded by two genes that are twoalmost identical copies, telomeric SMN (SMN1) and centromeric SMN (SMN2). The SMNI gene is homozygously absentin approximately 95% of SMA patients, whereas loss of SMN2 has been reported not to cause SMA. Prenatal diagnosis is widely applied for those pregnancies at risk for SMA, and here we present a family in which each of the parents is carrying SMN1 and NAIP gene deletions in one allele and SMN2deletion in the other. Their first child was carrying SMNI and NAIP gene deletions in both alleles and died at the age of 9 months. During the second pregnancy, the fetus was found to carry SMN2 deletion in both alleles, and the pregnancy was not terminated.
机译：脊髓性肌萎缩(SMA)的特点是运动神经元的死亡导致的扩散近端和远端无力、张力减退和肌肉萎缩。神经细胞凋亡抑制蛋白(简要)GTF2H2基因相关SMA。twoalmost相同的拷贝,即SMN (SMN1)着丝粒和SMN (SMN2)。纯合子地absentin SMA的大约95%病人,而失去SMN2已被报道不引起SMA。申请那些怀孕SMA的风险,在这里,我们提出一个家庭的每一个父母是携带SMN1和简要基因缺失在另一个等位基因和SMN2deletion。他们的第一个孩子载有SMNI和简要的基因删除在等位基因和去世,享年9个月。被发现携带SMN2删除在这两个等位基因,怀孕并没有终止。

著录项

相似文献

  • 外文文献
  • 中文文献
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号